{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T12:54:23Z","timestamp":1787316863000,"version":"build-2736575974"},"reference-count":32,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,4,29]],"date-time":"2024-04-29T00:00:00Z","timestamp":1714348800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,4,29]],"date-time":"2024-04-29T00:00:00Z","timestamp":1714348800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100015286","name":"Key Research and Development Program of Hebei Province","doi-asserted-by":"crossref","award":["No.2137720D"],"award-info":[{"award-number":["No.2137720D"]}],"id":[{"id":"10.13039\/501100015286","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Sotos syndrome (SOTOS) is an uncommon genetic condition that manifests itself with the following distinctive features: prenatal overgrowth, facial abnormalities, and intellectual disability. This disorder is often associated with haploinsufficiency of the nuclear receptor-binding SET domain protein 1 (\n                      <jats:italic>NSD1<\/jats:italic>\n                      )gene. We investigated four pediatric cases characterized by early-onset overgrowth and developmental delay. The primary objective of this study was to achieve accurate genetic diagnoses.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design&amp;Methods<\/jats:title>\n                    <jats:p>A sequential analysis approach comprising chromosomal karyotyping, whole exome sequencing, and microarray analysis was conducted.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      All four cases exhibited variations in the NSD1 gene, with the identification of four previously unreported de novo variants, each specific to one case.Specifically, Case 1 carried the\n                      <jats:italic>NSD1<\/jats:italic>\n                      (NM_022455): c.2686\u00a0C\u2009&gt;\u2009T(p.Q896X) variant, Case 2 had the\n                      <jats:italic>NSD1<\/jats:italic>\n                      (NM_022455): c.2858_2859delCT(p.S953X) variant, Case 3 displayed a chromosomal aberration, chr5: 5q35.2q35.3(176,516,604\u2013176,639,249)\u00d71, which encompassed the 5\u2032-untranslated region of\n                      <jats:italic>NSD1<\/jats:italic>\n                      , and Case 4 harbored the\n                      <jats:italic>NSD1<\/jats:italic>\n                      (NM_022455): c.6397T\u2009&gt;\u2009G(p.C2133G) variant.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study not only provided precise diagnoses for these cases but also supplied significant evidence to facilitate informed consultations. Furthermore, our findings expanded the spectrum of mutations associated with SOTOS.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12920-024-01889-5","type":"journal-article","created":{"date-parts":[[2024,4,29]],"date-time":"2024-04-29T11:01:58Z","timestamp":1714388518000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome"],"prefix":"10.1186","volume":"17","author":[{"given":"Zhuo","family":"Ren","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling","family":"Yue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hua-ying","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-lin","family":"Hou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen-qi","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhe","family":"Dong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,4,29]]},"reference":[{"key":"1889_CR1","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1056\/NEJM196407162710301","volume":"271","author":"JF Sotos","year":"1964","unstructured":"Sotos JF, Dodge PR, Muirhead D, Crawford JD, Talbot NB. 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Informed consent was taken from guardian\u2019s of all minor participants. All procedures in this study were conducted in accordance with the principles outlined in the Declaration of Helsinki 1964, as well as its subsequent amendments and relevant ethical standards.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"116"}}